Gene: SPSB3 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 90864
Gene Symbol: SPSB3
SPSB3 		0.100 GeneticVariation disease CLINVAR Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies. 27018247 2016
Entrez Id: 90864
Gene Symbol: SPSB3
SPSB3 		0.100 GeneticVariation disease CLINVAR Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system. 24335034 2013
Entrez Id: 90864
Gene Symbol: SPSB3
SPSB3 		0.100 GeneticVariation disease CLINVAR A new structural model of the acid-labile subunit: pathogenetic mechanisms of short stature-causing mutations. 22991227 2012
Entrez Id: 90864
Gene Symbol: SPSB3
SPSB3 		0.100 GeneticVariation disease CLINVAR Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium. 20591980 2010
Entrez Id: 90864
Gene Symbol: SPSB3
SPSB3 		0.100 GeneticVariation disease CLINVAR Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia. 18303074 2008
Entrez Id: 90864
Gene Symbol: SPSB3
SPSB3 		0.100 CausalMutation disease CLINVAR